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Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience
BACKGROUND: Gaucher disease is a rare multi-systemic metabolic disorder resulting from the deficiency of acid β-glucosidase activity, with consequent accumulation of glucocerebroside. Less than 15% of mean normal acid β-glucosidase activity in leukocytes is the gold standard for the diagnosis of Gau...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838951/ https://www.ncbi.nlm.nih.gov/pubmed/31720445 http://dx.doi.org/10.1016/j.heliyon.2019.e02574 |